Person: GÖKCE, İBRAHİM
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Publication Open Access Phenotypic variability in siblings with autosomal recessive polycystic kidney disease(2022-07-01) GÖKCE, İBRAHİM; Ajiri R., Burgmaier K., Akinci N., Broekaert I., Büscher A., Dursun I., Duzova A., Eid L. A., Fila M., Gessner M., et al.© 2022 International Society of NephrologyIntroduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. Methods: We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. Results: We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1–6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2–6.2) years. Data on PKHD1 variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. Conclusion: In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.Publication Metadata only Us guided percutaneous renal biopsies in children and adolescents: single center experience and assesment of risk factors associated with complications(2018-02-28) GÖKCE, İBRAHİM; BUĞDAYCI, ONUR; ERGELEN, RABİA; ASADOV R., GÜNDOĞMUŞ C. A., GÖKCE İ., SAK M., BUĞDAYCI O., ERGELEN R., EKİNCİ G., BALTACIOĞLU F.Publication Metadata only Hepatıc phenotype and complicatıons in patients with ARPKD – data from the International ARPKD Registry Study ARegPKD(2022-06-25) GÖKCE, İBRAHİM; Broekaert I., Kathrin B., Kilian S., Leidig B., Büscher A., Dursun İ., Gökce İ., Aregpkd C.Publication Open Access Collapsing Glomerulopathy in a Patient with a TRPC6 Mutation Presenting as Rapidly Progressive Glomerulonephritis: A Case Report and Review of the Literature(2023-01-01) GÖKCE, İBRAHİM; KAYA, MİTHAT; ÇİÇEK DENİZ, NESLİHAN; YILDIZ, NURDAN; KAYA, HANDAN; ALPAY, HARİKA; GÖKCE İ., KAYA M., ÇİÇEK N., Guven S., Ercetin Y., YILDIZ N., KAYA H., ALPAY H.Collapsing glomerulopathy (CG) is a proliferative disease characterized by segmental or global wrinkling of the glomerular basement membrane and the formation of pseudocrescents, whereas focal segmental glomerulosclerosis (FSGS) is characterized by podocytopenia, and focal and segmental sclerosis of the glomeruli. Mutations in NPHS1, NPHS2, WT1, PLCE1, CD2AP, ACTN4, and TRPC6 have been reported in steroid-resistant FSGS patients. The mutations p.R895C and p.R895L in Exon 13 are the only ones in TRPC6 causing CG reported to date. Here, we present the case of a 17-year-old male patient with a collapsing variant of familial FSGS caused by a mutation in TRPC6 (p.R895C) who presented with rapidly progressive (crescentic) and proliferative glomerulonephritis.Publication Metadata only ’Antenatal hidronefroz. Antenatal ve postnatal değerlendirme(Selen Yayıncılık, 2022-12-01) GÖKCE, İBRAHİM; Altuntaş Ü., Gökce İ.